Varaico: Literature-Extracted Genetic Variants

Gene:RARB
Variant:p.K220Q

RARB

129 papers

RefSeq Summary

This gene encodes retinoic acid receptor beta, a member of the thyroid-steroid hormone receptor superfamily of nuclear transcriptional regulators. This receptor localizes to the cytoplasm and to subnu...

Pfam Domains

zf-C4aa 86–155UCSCDouble treble clef zinc finger, C4 type
Hormone_recepaa 224–401UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

retinoic acid receptor beta

HGNC Alias Symbols

NR1B2; RRB2; RARbeta; RAR-beta

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000965.5
p.K220Q
c.658A>C
Surrounding Variants
1 paper
NM_000965.5
p.W218C
c.654G>C
1 paper
NM_000965.5
p.W218C
c.654G>T
1 paper
NM_000965.5
p.A225S
c.673G>T
1 paper
NM_000965.5
p.T226I
c.677C>T
6 papers
NM_000965.5
p.L213P
c.638T>C
1 paper
NM_000965.5
p.K227*
c.679A>T
1 paper
NM_000965.5
p.R212Q
c.635G>A
1 paper
NM_000965.5
p.R212G
c.634C>G
1 paper
NM_000965.5
p.C228R
c.682T>C
1 paper
NM_000965.5
p.R210Q
c.629G>A
1 paper
NM_000965.5
p.R210*
c.628C>T
1 paper
NM_000965.5
p.V233V
c.699G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."